| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8149G>T | p.Glu2717X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | TAG | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Rma I, Spe I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0157 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | Reference |
| 122 | Unpublished data |